Stefano Duga

Medical Genetics and RNA Biology

Contact Information

  • Address
    Via Rita Levi Montalcini, 4 Pieve Emanuele, Milano 20089 Italy
  • Telephone
    +39 0282245204
  • Fax
    +39 0282245290
  • E-mail

Our main scientific interests concern the study of the genetic basis and of the molecular mechanisms underlying human Mendelian and multifactorial diseases. In particular, we are interested in the characterization of the pathogenic mechanisms that interfere with splicing and transcript stability. We also have a specific expertise in the study of the regulation of gene expression at the post-transcription level, in the analysis of the functional role of non-coding RNAs and in the application of genomic approaches (genome-wide association studies and next-generation sequencing, NGS) to the identification of the genetic components of human inherited diseases.

Genetic predisposition to complex diseases

We are interested in understanding the genetic components of the predisposition to neurodegenerative diseases, such as Parkinson diseases and multiple sclerosis. Another important field of research in our laboratory is the genetics of juvenile myocardial infarction, this work is partly conducted in collaboration with the Broad Institute of MIT and Harvard.

Role of non-coding RNAs in the pathogenesis of human diseases

We are interested in investigating the role of miRNAs and of other non-coding RNAs in the pathogenesis of different diseases: non-syndromic hearing loss, PD, and multiple sclerosis. In these pathological contexts, we try to identify non-coding RNAs that play a role in pathogenesis, to study their expression profile and biogenesis, to predict and experimentally validate their function and interaction with targets. In particular we are interested in the study of circular RNAs as potential biomarkers of different diseases. We are also working on the identification of small molecules modulating splicing as amplifier drugs in cystic fibrosis therapy.

Novel approaches for the molecular diagnosis of cancer

We are working at the identification of tumor element in biologic fluids for the early detection and molecular characterization of prostate cancer. We are also collaborating to a radiomics project aimed at combining FDG-PET quantitative analysis with pathology data, somatic mutations, chromosomal rearrangements, patient outcome and therapy response in lung cancer.

    Selected Publications

  • Stefano Duga Publications

    Selected Publications: 20-25 publications listed in details with all the contributing authors, title of the papers, journal, dates. Paraboschi, E. M., Khera, A. V., Merlini, P. A., Gigante, L., Peyvandi, ...

Group Members